Understanding the role of SNX13 in brain function and disease
Official title: Investigating SNX13 in Cerebellar Function and Disease
Funded at University of Pennsylvania · NIH-10935965 · Data updated 2026-11-12
This study is looking at how a protein called SNX13 affects the way brain cells use fats, which is important for keeping our brains healthy, and it aims to help kids with cerebellar ataxia by understanding how changes in this protein might be causing their symptoms.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 18, 2023 |
| Project end | September 17, 2025 |
| Funding year | 2024 |
| Award (this year) | $36,651 |
| NIH project number | 5F31NS130941-02 |
| Project ID | NIH-10935965 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with cerebellar ataxia or have mutations in the SNX13 gene.
✕Less likely to help
Patients with cerebellar ataxia not associated with SNX13 mutations or those over the age of 11 may not benefit from this research.
What this research studies
This research investigates how the protein SNX13 affects lipid metabolism in neurons, which is crucial for brain health and function. By using advanced techniques like CRISPR and gene delivery methods, the study aims to explore the impact of SNX13 on cerebellar integrity and motor behavior in animal models. Additionally, it will analyze human stem cell-derived neurons to understand how mutations in SNX13 contribute to cerebellar ataxia in children. The goal is to uncover the molecular mechanisms behind SNX13's role in neuronal health.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for children suffering from cerebellar ataxia linked to SNX13 mutations.
How similar studies have gone: While the specific focus on SNX13 is novel, similar research on lipid metabolism and neuronal function has shown promising results in understanding neurodegenerative diseases.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Sanchez, Vanessa Breanne — University of Pennsylvania
- Study coordinator: Sanchez, Vanessa Breanne
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.